Results 111 to 120 of about 13,407 (248)

Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria

Journal of International Medical Research, 2019
Objective This study’s aim was to identify the genetic causes in a patient with phenylketonuria and hearing loss, liver disease, developmental and mental retardation, hypotonia, and external ophthalmoplegia.
Lin Li, Jin-Qi Zhao, Chengrong Wang, Nan Yang, Li-Fei Gong, Hai-He Yang, Chenghong Yin, Yuan-Yuan Kong   +7 more
doaj   +1 more source

Multi-minicore Disease [PDF]

, 2007
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown.
Heinz Jungbluth, AG Engel, C Wallgren-Pettersson, MI Hughes, N Darin, Y Zhang, H Jungbluth, H Jungbluth, A Ferreiro, A Shuaib, H Bonnette, AM Magliocco, AZJ Zeman, A Ferreiro, RB Fitzsimons, KP Rimmer, PW Rowe, H Jungbluth, M Swash, GK van Wijngaarden, PH Gordon, H Jungbluth, N Monnier, A Ferreiro, H Jungbluth, H Jungbluth, E Mercuri, MA Denborough, BM Koch, H Osada, V Barone, S Guis, J Bethlem, AN Bender, AKW Brownell, JA Vanneste, L Paljaervi, T Yoshida, B Moghadaszadeh, RC McKenzie, N Petit, M Deniziak, H Zhou, NB Romero, MS Phillips, G Meissner, T Wagenknecht, S Treves, S Wu, J Tong, RT Dirksen, S Ducreux, H Zhou, F Zorzato, V Dubowitz, CA Sewry, S Jongpiputvanich, CA Sewry, CG Bonnemann, M Herasse, H Jungbluth, P Nurenberg, JF Pellissier, I Tein, M Ohkubo, AE Chudley, YS Lee, N Hulsmann, JM Vallat, C Thomas, PC Scacheri, N Monnier, H Jungbluth, AM Kaindl, V Carmignac, E Bertini, SL Maidment, MAAP Willemsen, UJM Hagberg, C Wallgren-Pettersson, MA Denborough, S Messina   +81 more
core   +2 more sources

[Progressive external ophthalmoplegia].

Anales de medicina interna (Madrid, Spain : 1984), 1991
Progressive external ophthalmoplegia is a myopathic alteration of slow progression which affects the extrinsic ocular muscles; ptosis of the eyelid being the most characteristic sign. Nowadays, it is included as type of muscular dystrophy. Even though mitochondrial changes have been described, they are not specific to this disease.
J, García Castaño, A, Rollan Landeras, F, Pasquau Liaño, P, Miralles, M, García Román, C, Gilsanz Fernández   +5 more
openaire   +1 more source

Two Cases of External Ophthalmoplegia after Vincristine Treatment in Childhood [PDF]

, 2016
Dong Hyun Lee, Jae Ho Jung
openalex   +1 more source

Data related to article "Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions"

, 2021
Daniele Ghezzi, Andrea Legati
openalex   +1 more source

Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism

Case Reports in Clinical Practice
Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities.
Sriram Mudraje, Jaideep Khare, Nancy Garg, Sushil Jindal   +3 more
doaj   +1 more source

Ocular motility findings in chronic progressive external ophthalmoplegia [PDF]

, 2004
Christopher T. Richardson, T Smith, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths   +4 more
openalex   +1 more source

845 Progressive external ophthalmoplegia in sleep apnea presenting as floppy eyelid syndrome [PDF]

, 2021
Pratibha Anne, Rupa Koothirezhi, Ugorji Okorie, Minh Tam Ho, Brittany Monceaux, César Liendo, Sheila Asghar, Oleg Chernyshev   +7 more
openalex   +1 more source

Expanded‐Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series

Clinical Case Reports
This case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized
Sharique Ansari, Mary Kay Koenig
doaj   +1 more source

Chronic progressive external ophthalmoplegia

Acta Ophthalmologica, 2017
SummaryChronic progressive external ophthalmoplegia (CPEO) is a slowly progressive extraocular muscle disorder characterized by bilateral, usually symmetrical, limitation of eye movements and ptosis. This classical manifestation of mitochondrial disease can develop either in isolation or more frequently, in association with other multisystemic features
openaire   +1 more source